Incidental Mutation 'IGL01637:Rassf4'
ID93063
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rassf4
Ensembl Gene ENSMUSG00000042129
Gene NameRas association (RalGDS/AF-6) domain family member 4
Synonyms3830411C14Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.095) question?
Stock #IGL01637
Quality Score
Status
Chromosome6
Chromosomal Location116633008-116673952 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 116641690 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 211 (F211L)
Ref Sequence ENSEMBL: ENSMUSP00000144786 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035842] [ENSMUST00000203029] [ENSMUST00000204203] [ENSMUST00000204576]
Predicted Effect probably damaging
Transcript: ENSMUST00000035842
AA Change: F211L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000048267
Gene: ENSMUSG00000042129
AA Change: F211L

DomainStartEndE-ValueType
low complexity region 6 16 N/A INTRINSIC
low complexity region 46 57 N/A INTRINSIC
RA 173 263 1.36e-15 SMART
Pfam:Nore1-SARAH 276 315 1.7e-15 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184219
Predicted Effect probably damaging
Transcript: ENSMUST00000203029
AA Change: F211L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000144786
Gene: ENSMUSG00000042129
AA Change: F211L

DomainStartEndE-ValueType
low complexity region 6 16 N/A INTRINSIC
low complexity region 46 57 N/A INTRINSIC
RA 173 263 8.7e-18 SMART
Pfam:Nore1-SARAH 276 303 1.6e-8 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203477
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203634
Predicted Effect probably benign
Transcript: ENSMUST00000204203
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204313
Predicted Effect probably benign
Transcript: ENSMUST00000204576
SMART Domains Protein: ENSMUSP00000145394
Gene: ENSMUSG00000042129

DomainStartEndE-ValueType
low complexity region 3 15 N/A INTRINSIC
low complexity region 31 42 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The function of this gene has not yet been determined but may involve a role in tumor suppression. Alternative splicing of this gene results in several transcript variants; however, most of the variants have not been fully described. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn4 A T 7: 28,904,684 I384N probably damaging Het
Adsl G T 15: 80,948,700 Q51H probably null Het
Apcdd1 A G 18: 62,937,286 E208G probably damaging Het
Arrdc4 G A 7: 68,744,832 R155* probably null Het
Atp9b T C 18: 80,756,455 E823G probably benign Het
Bmp1 A G 14: 70,492,461 W468R probably damaging Het
C6 A G 15: 4,759,917 I281M possibly damaging Het
Ccdc88b T C 19: 6,846,710 T1392A probably benign Het
Dhx34 G T 7: 16,205,473 S665Y probably damaging Het
Dock1 A T 7: 135,137,813 probably null Het
Dpp7 T C 2: 25,354,613 N252S probably benign Het
Dyrk2 A G 10: 118,860,507 V282A probably damaging Het
Edrf1 T C 7: 133,650,525 L401P probably damaging Het
Epc1 A G 18: 6,439,724 V150A probably benign Het
Fam170a A T 18: 50,281,667 M127L possibly damaging Het
Fam19a3 C T 3: 104,773,079 V75M probably damaging Het
Gabrg1 T A 5: 70,777,205 T277S probably damaging Het
Galntl5 T C 5: 25,189,825 probably benign Het
Gbp2b A G 3: 142,598,312 N56S probably damaging Het
Gfm2 T A 13: 97,150,409 V172E probably damaging Het
Gm10419 T C 5: 108,372,358 probably benign Het
Gm7293 A G 9: 51,623,606 noncoding transcript Het
Gstm3 T C 3: 107,967,633 E101G probably damaging Het
Ifnlr1 T C 4: 135,686,545 W2R possibly damaging Het
Ighv13-1 A T 12: 114,267,733 probably benign Het
Ighv7-1 T A 12: 113,896,503 I90F possibly damaging Het
Itga2b A G 11: 102,455,583 L1009P probably damaging Het
Kif1a A G 1: 93,039,853 V1112A possibly damaging Het
Kif5a A T 10: 127,245,368 D232E possibly damaging Het
Klb G A 5: 65,375,679 probably null Het
Lrriq1 G A 10: 103,215,628 A421V probably benign Het
Mdga1 G A 17: 29,839,871 R721C probably damaging Het
Mrpl48 G T 7: 100,550,532 probably benign Het
Myo18b T A 5: 112,840,629 R1030S possibly damaging Het
Nf1 T A 11: 79,547,120 H2101Q probably damaging Het
Nlrp3 C A 11: 59,549,378 L594I probably damaging Het
Notch2 C T 3: 98,146,060 T2013I probably damaging Het
Olfr1018 A T 2: 85,822,988 T6S probably benign Het
Olfr131 G A 17: 38,082,103 L292F possibly damaging Het
Olfr593 C A 7: 103,212,177 R95S probably benign Het
Olfr812 A G 10: 129,842,610 L144P probably benign Het
Olfr845 T C 9: 19,338,964 F168S probably damaging Het
Panx3 T C 9: 37,664,056 D170G probably damaging Het
Pclo A G 5: 14,540,034 S783G unknown Het
Pde3b T A 7: 114,526,901 L790* probably null Het
Pik3r2 T C 8: 70,772,348 probably benign Het
Rbl2 C T 8: 91,106,438 P666S probably benign Het
Rnf123 A G 9: 108,058,238 F979L probably damaging Het
Rock2 T A 12: 16,965,171 D788E probably benign Het
Serpina3b A G 12: 104,132,957 T244A probably benign Het
Setd1b T C 5: 123,148,513 S541P unknown Het
Slc12a4 T C 8: 105,960,707 D60G possibly damaging Het
Stac2 T C 11: 98,041,354 E241G probably benign Het
Tas2r115 A G 6: 132,737,629 Y120H probably damaging Het
Tmtc2 A T 10: 105,370,085 F450I probably benign Het
Txnl1 A T 18: 63,674,191 I198N probably damaging Het
Ubr2 A T 17: 46,956,654 M1049K probably damaging Het
Ugt2b5 T C 5: 87,139,900 E136G probably benign Het
Unc13b C T 4: 43,241,066 T3623I probably damaging Het
Usp13 T A 3: 32,919,064 S797T probably benign Het
Vmn1r173 A T 7: 23,702,948 T203S probably damaging Het
Vwf T A 6: 125,645,736 I1718N probably damaging Het
Zfr A G 15: 12,159,646 H676R probably benign Het
Other mutations in Rassf4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00482:Rassf4 APN 6 116645128 missense possibly damaging 0.47
IGL01132:Rassf4 APN 6 116659607 splice site probably benign
IGL02000:Rassf4 APN 6 116645972 missense probably benign 0.20
IGL02748:Rassf4 APN 6 116639457 missense possibly damaging 0.93
IGL02976:Rassf4 APN 6 116638248 missense probably damaging 0.96
IGL03394:Rassf4 APN 6 116641747 missense probably damaging 1.00
R0573:Rassf4 UTSW 6 116647555 splice site probably benign
R0599:Rassf4 UTSW 6 116645936 missense probably damaging 1.00
R1741:Rassf4 UTSW 6 116639489 missense probably damaging 1.00
R1750:Rassf4 UTSW 6 116640267 missense probably damaging 1.00
R2117:Rassf4 UTSW 6 116645127 missense possibly damaging 0.86
R2369:Rassf4 UTSW 6 116638297 missense probably damaging 0.97
R2916:Rassf4 UTSW 6 116641740 missense probably damaging 1.00
R2918:Rassf4 UTSW 6 116641740 missense probably damaging 1.00
R4829:Rassf4 UTSW 6 116645142 missense possibly damaging 0.80
R5716:Rassf4 UTSW 6 116661867 missense probably benign 0.01
R6769:Rassf4 UTSW 6 116641472 missense possibly damaging 0.95
R7304:Rassf4 UTSW 6 116640317 missense probably damaging 0.99
Posted On2013-12-09